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Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
Myopathies in systemic disease results from several different disease processes including endocrine, inflammatory, paraneoplastic, infectious, drug- and toxin-induced, critical illness myopathy, metabolic, collagen related, [3] and myopathies with other systemic disorders. Patients with systemic myopathies often present acutely or sub
Nemaline myopathy is caused by mutations in one of at least 11 different genes. [2] [12] Nemaline myopathy is a clinically and genetically heterogeneous disorder and both autosomal dominant and autosomal recessive forms can occur. Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes ...
Founded in New Jersey, CCF has grown into a global community of families, physicians, and scientists focused on accelerating the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, and advocacy. [2] The organization also provides support and resources to affected children and their families ...
Although this condition only affects the voluntary muscles, several children have had cardiac arrest, possibly due to the additional stress placed on the heart. [2] X-linked myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years. There appears to be substantial variability in the ...
Inflammatory myopathy, also known as idiopathic inflammatory myopathy (IIM), is disease featuring muscle weakness, inflammation of muscles , and in some types, muscle pain . The cause of much inflammatory myopathy is unknown ( idiopathic ), and such cases are classified according to their symptoms and signs , electromyography , MRI , and ...
The UK incidence is believed to be between 2-3 per million children per year, with some difference between ethnic groups. The sex ratio (Female : Male) is approximately 2:1. Other Idiopathic inflammatory myopathies include; juvenile polymyositis (PM), which is rare and not as common in children as in adults.
Some CFTD children appear to "grow out" of their hypotonia and weakness during childhood, and this can often be accompanied by a normalization of type 1 fiber size. [3] According to the current literature, patients are most likely to carry mutations in TPM3, RYR1, ACTA1, and possibly TPM2 and SEPN1 in that order.